Value of molecular autopsy in suspected sudden cardiac death in the young.

Genetic testing, as part of the medico-legal autopsy in cases of suspected sudden cardiac death, has been recommended for several years, however, are rarely performed. The aim was to assess the value of postmortem genetic testing in unexplained sudden death in the young. This is a prospective study including all cases with unexplained natural sudden death cases in individuals ≤50 years old undergoing a legal autopsy. Postmortem genetic testing was routinely performed in cases under 35 and after 35 only when no cause of death was identified or there was suspicion of a possible inherited cardiac phenotype after a complete autopsy. In cases under 35 years of age, genetic testing showed a positivity rate of 7.6%. The most striking finding has been the positivity rate of thoracic aorta aneurysms and myocarditis cases at 33% respectively. In cases between 36 and 50 years of age, the positivity rate was 4.9%. If we were to approach this group with direct genetic analysis, as we did with the younger cohort, the yield of positive genetic testing would drop to 2.5%. This is the largest study of postmortem genetic testing in the young to date, and the first to address its value in consecutive cases, free of selection bias.